A large study reveals no association between APOE and Parkinson's disease

by Monica Federoff, Belen Jimenez-Rolando, Michael A. Nalls, Andrew B. Singleton
Published 2012-05-01

Genetics of Parkinson's disease: An introspection of its journey towards precision medicine

by Sara Bandres-Ciga, Monica Diez-Fairen, Jonggeol Jeff Kim, Andrew B. Singleton
Published 2020-04-01

Genome wide assessment of young onset Parkinson's disease from Finland.

by Dena G Hernandez, Michael A Nalls, Pauli Ylikotila, Margaux Keller, John A Hardy, Kari Majamaa, Andrew B Singleton
Published 2012-01-01

A Novel DYT-5 Mutation with Phenotypic Variability Within a Colombian Family

by Oscar Bernal-Pacheco, Genko Oyama, Angela Briton, Andrew B. Singleton, Hubert H. Fernandez, Ramon L. Rodriguez, Irene A. Malaty, Michael S. Okun
Published 2013-10-01

A population scale analysis of rare SNCA variation in the UK Biobank

by Cornelis Blauwendraat, Mary B. Makarious, Hampton L. Leonard, Sara Bandres-Ciga, Hirotaka Iwaki, Mike A. Nalls, Alastair J. Noyce, Andrew B. Singleton
Published 2021-01-01

Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis

by Michael L. Garcia, Andrew B. Singleton, Dena Hernandez, Christopher M. Ward, Crystal Evey, Peter A. Sapp, John Hardy, Robert H. Brown, Jr., Don W. Cleveland
Published 2006-01-01

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

by Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou
Published 2017-11-01

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

by Michael A Nalls, Javier Simon-Sanchez, J Raphael Gibbs, Coro Paisan-Ruiz, Jose Tomas Bras, Toshiko Tanaka, Mar Matarin, Sonja Scholz, Charles Weitz, Tamara B Harris, Luigi Ferrucci, John Hardy, Andrew B Singleton
Published 2009-03-01

Plasma 24-metabolite panel predicts preclinical transition to clinical stages of Alzheimer’s disease

by Massimo S Fiandaca, Xioagang eZhong, Amrita K Cheema, Michael H. Orquiza, Swathi eChidambaram, Ming T Tan, Carole Roan Gresenz, Kevin T FitzGerald, Michael A Nalls, Andrew B Singleton, Mark eMapstone, Howard J Federoff
Published 2015-11-01

Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based i...

by Andrew R Wood, John R B Perry, Toshiko Tanaka, Dena G Hernandez, Hou-Feng Zheng, David Melzer, J Raphael Gibbs, Michael A Nalls, Michael N Weedon, Tim D Spector, J Brent Richards, Stefania Bandinelli, Luigi Ferrucci, Andrew B Singleton, Timothy M Frayling
Published 2013-01-01

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

by Joshua T. Geiger, Jinhui Ding, Barbara Crain, Olga Pletnikova, Christopher Letson, Ted M. Dawson, Liana S. Rosenthal, Alexander Pantelyat, J. Raphael Gibbs, Marilyn S. Albert, Dena G. Hernandez, Argye E. Hillis, David J. Stone, Andrew B. Singleton, John A. Hardy, Juan C. Troncoso, Sonja W. Scholz
Published 2016-10-01

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease.

by Javier Simón-Sánchez, Laura L Kilarski, Michael A Nalls, Maria Martinez, Claudia Schulte, Peter Holmans, International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium, Thomas Gasser, John Hardy, Andrew B Singleton, Nicholas W Wood, Alexis Brice, Peter Heutink, Nigel Williams, Huw R Morris
Published 2012-01-01

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.

by J Raphael Gibbs, Marcel P van der Brug, Dena G Hernandez, Bryan J Traynor, Michael A Nalls, Shiao-Lin Lai, Sampath Arepalli, Allissa Dillman, Ian P Rafferty, Juan Troncoso, Robert Johnson, H Ronald Zielke, Luigi Ferrucci, Dan L Longo, Mark R Cookson, Andrew B Singleton
Published 2010-05-01

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

by Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Faycal Hentati, Neema Baudry, Jennifer Tran, Andrew B. Singleton, Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr, Xiaoning Bi, Henry Houlden, Michel Baudry
Published 2016-06-01

Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction

by Cavin K. Ward-Caviness, Golareh Agha, Brian H. Chen, Liliane Pfeiffer, Rory Wilson, Petra Wolf, Christian Gieger, Joel Schwartz, Pantel S. Vokonas, Lifang Hou, Allan C. Just, Stefania Bandinelli, Dena G. Hernandez, Andrew B. Singleton, Holger Prokisch, Thomas Meitinger, Gabi Kastenmüller, Luigi Ferrucci, Andrea A. Baccarelli, Melanie Waldenberger, Annette Peters
Published 2018-12-01

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

by Dena G. Hernandez, Mike A. Nalls, Matthew Moore, Sean Chong, Allissa Dillman, Daniah Trabzuni, J. Raphael Gibbs, Mina Ryten, Sampath Arepalli, Michael E. Weale, Alan B. Zonderman, Juan Troncoso, Richard O'Brien, Robert Walker, Colin Smith, Stefania Bandinelli, Bryan J. Traynor, John Hardy, Andrew B. Singleton, Mark R. Cookson
Published 2012-07-01

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

by Celeste Sassi, Perry G Ridge, Michael A Nalls, Raphael Gibbs, Jinhui Ding, Michelle K Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, ARUK Consortium, Kevin Morgan, John F Powell, John S Kauwe, Carlos Cruchaga, Jose Bras, Alison M Goate, Andrew B Singleton, Rita Guerreiro, John Hardy
Published 2016-01-01

A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.

by Rehan Qayyum, Beverly M Snively, Elad Ziv, Michael A Nalls, Yongmei Liu, Weihong Tang, Lisa R Yanek, Leslie Lange, Michele K Evans, Santhi Ganesh, Melissa A Austin, Guillaume Lettre, Diane M Becker, Alan B Zonderman, Andrew B Singleton, Tamara B Harris, Emile R Mohler, Benjamin A Logsdon, Charles Kooperberg, Aaron R Folsom, James G Wilson, Lewis C Becker, Alexander P Reiner
Published 2012-01-01

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

by Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, R J McKinlay Gardner, Susan M Forrest, Elizabeth M C Fisher, James T Russell, Huaibin Cai, Andrew B Singleton
Published 2007-06-01

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.

by Karen Kapur, Toby Johnson, Noam D Beckmann, Joban Sehmi, Toshiko Tanaka, Zoltán Kutalik, Unnur Styrkarsdottir, Weihua Zhang, Diana Marek, Daniel F Gudbjartsson, Yuri Milaneschi, Hilma Holm, Angelo Diiorio, Dawn Waterworth, Yun Li, Andrew B Singleton, Unnur S Bjornsdottir, Gunnar Sigurdsson, Dena G Hernandez, Ranil Desilva, Paul Elliott, Gudmundur I Eyjolfsson, Jack M Guralnik, James Scott, Unnur Thorsteinsdottir, Stefania Bandinelli, John Chambers, Kari Stefansson, Gérard Waeber, Luigi Ferrucci, Jaspal S Kooner, Vincent Mooser, Peter Vollenweider, Jacques S Beckmann, Murielle Bochud, Sven Bergmann
Published 2010-07-01